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Whistle blowing in clinical diagnosis
  1. Nicholas D Embleton,
  2. Kaushik V S Pillalamarri
  1. Newcastle Neonatal Service, Department of Child Health, University of Newcastle upon Tyne, Royal Victoria Infirmary, Newcastle upon Tyne, UK
  1. For correspondence:
    Dr N D Embleton
    Newcastle Neonatal Service, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK;n.d.embleton{at}

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Mrs Pearce is 28 years old and gave birth to twins at 34 weeks’ gestation. She had no relevant past medical history. Intrauterine ultrasound diagnosed a dichorionic, diamniotic twin pregnancy in the first trimester. Subsequent antenatal scanning detected the presence of talipes in twin I, but no other abnormalities were noted. Pregnancy was otherwise uncomplicated but spontaneous preterm labour occurred at 34 weeks.


  • Zygosity cannot easily be determined antenatally but chorionicity (number of placentas) and number of amniotic sacs can be ascertained using ultrasound. All dizygous twins are dichorionic (DC) and diamniotic (DA). About two thirds of monozygous twins will be DC (fig 1).

  • Monochorionic mono-amniotic twins frequently have placental anastamoses that allow blood to shunt from one twin to the other. This may result in twin to twin transfusion syndrome and be responsible for the substantially increased risk of neurodevelopmental morbidity in twins.1

Figure 1

 Zygosity and chorionicity (based on Pharoah1). DA, diamniotic; DC, dichorionic; MC-DA, monochorionic diamniotic; MC-MA, monochorionic mono-amniotic.

Fetal tachycardia (170 bpm) and delay in the second stage resulted in the use of forceps to aid delivery. Both twins were live born and male. Twin II did not require resuscitation but twin I (Oliver) had poor respiratory effort and brief face mask resuscitation was required.

Shortly after delivery Oliver was noted to have a number of dysmorphic features ( figures 2–5 ). These included low set ears, micrognathia and apparent microphthalmia, a high arched palate (but no obvious cleft), talipes and overlapping of the fingers in both hands. He weighed 2070 g (25th centile).

Figure 2

 Oliver’s facial features from the side. Parental informed consent was obtained for publication of this figure.

Figure 3

 Oliver’s facial features from the front. Parental informed consent was obtained for publication of this figure.

Figure 4

 Oliver’s foot. Parental informed consent was obtained for publication of this …

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  • Competing interests: None.

  • Informed consent was obtained for publication of the person’s details in this report. Parental informed consent was obtained for publication of figures 2, 3, 4 and 5. The names of the patient and his parents have been changed.